SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS2151190684 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS2151190809 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS2151191080 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS2151191235 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS2151191254 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS2151191747 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS2151192256 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151192622 MYH11 Health Risk Pathogenic Aortic aneurysm, familial thoracic 4
RS2151192841 CNTN2 Health Risk Pathogenic Epilepsy, familial adult myoclonic
RS2151192910 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS2151193070 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS2151193128 SYNGAP1 Health Risk Likely pathogenic —
RS2151194158 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151194257 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS2151194859 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151194897 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Bloom syndrome
RS2151198133 CNTN2 Health Risk Likely pathogenic Epilepsy, familial adult myoclonic
RS2151198227 RPGRIP1L Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2151198261 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151198266 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151198294 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151198369 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151198382 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151198389 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS2151198391 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151198402 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151198423 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS2151198563 RPGRIP1L Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2151199347 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS2151199464 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS2151199493 SYNGAP1 Health Risk Likely pathogenic —
RS2151199529 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS2151199690 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS2151199869 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS2151199875 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS2151199906 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS2151199939 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS2151200083 CNTN2 Health Risk Pathogenic Epilepsy, familial adult myoclonic
RS2151200415 CNTN2 Health Risk Pathogenic Epilepsy, familial adult myoclonic
RS2151202533 SYNGAP1 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2151206304 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS2151211152 MYH11 Health Risk Likely pathogenic —
RS2151212328 SERPINF1 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS2151212834 SERPINF1 Health Risk Pathogenic Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6
RS2151212936 SERPINF1 Health Risk Pathogenic —
RS2151212971 SERPINF1 Health Risk Likely pathogenic —
RS2151213387 SERPINF1 Health Risk Pathogenic —
RS2151213460 SERPINF1 Health Risk Likely pathogenic Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6
RS2151217037 HCN4 Health Risk Likely pathogenic Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy
RS2151217044 HCN4 Health Risk Likely pathogenic Brugada syndrome 8, Brugada syndrome 8
RS2151219190 MYH11 Health Risk Pathogenic Aortic aneurysm, familial thoracic 4
RS2151219802 MYH11 Health Risk Likely pathogenic Aortic aneurysm, familial thoracic 4
RS2151220219 ABHD16A Health Risk Likely pathogenic Autosomal recessive complex spastic paraplegia, Autosomal recessive complex spastic paraplegia
RS2151221183 HCN4 Health Risk Pathogenic/Likely pathogenic Brugada syndrome 8, HCN4-related disorder
RS2151225126 MYH11 Health Risk Likely pathogenic Aortic aneurysm, familial thoracic 4
RS2151231096 ABHD16A Health Risk Pathogenic Spastic paraplegia 86, autosomal recessive
RS2151233812 KIF20A Health Risk Pathogenic Cardiomyopathy, familial restrictive
RS2151235993 MYH11 Health Risk Likely pathogenic —
RS2151236178 MYH11 Health Risk Pathogenic Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2
RS2151236867 RPGRIP1L Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2151240720 MYH11 Health Risk Likely pathogenic Aortic aneurysm, familial thoracic 4
RS2151244040 MYH11 Health Risk Pathogenic Aortic aneurysm, familial thoracic 4
RS2151244350 MYH11 Health Risk Pathogenic Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, Megacystis-microcolon-intestinal hypoperistalsis syndrome 2
RS2151245549 RPGRIP1L Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2151256799 ABHD16A Health Risk Pathogenic Spastic paraplegia 86, autosomal recessive
RS2151259960 MYH11 Health Risk Likely pathogenic Aortic aneurysm, familial thoracic 4
RS2151260076 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS2151260748 MYH11 Health Risk Likely pathogenic Aortic aneurysm, familial thoracic 4
RS2151261317 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2151267265 DNAAF1 Health Risk Pathogenic Primary ciliary dyskinesia 13, Primary ciliary dyskinesia 13
RS2151269056 MYH11 Health Risk Pathogenic Aortic aneurysm, familial thoracic 4
RS2151274939 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2151275013 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151277529 TSC2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2151278146 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151278476 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151279634 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151284583 SRCAP Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2151286256 SRCAP Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2151287951 SRCAP Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder, Developmental delay
RS2151288511 SRCAP Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2151288590 SRCAP Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2151289213 SRCAP Health Risk Likely pathogenic Developmental delay, hypotonia
RS2151293443 SRCAP Health Risk Likely pathogenic Developmental delay, hypotonia
RS2151293617 SRCAP Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2151293657 SRCAP Health Risk Likely pathogenic —
RS2151293907 SRCAP Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2151294192 SRCAP Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2151294378 SRCAP Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2151294456 SRCAP Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2151294574 SRCAP Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2151294647 SRCAP Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2151294652 SRCAP Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2151295776 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS2151296560 SRCAP Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder, Developmental delay
RS2151296564 SRCAP Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2151296839 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS2151297228 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151298248 SRCAP Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2151299256 TSC2 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
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